Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.Y18F
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MAPT

NM_001377265.1:p.Y18F

Associated Papers

Gene therapy targeting synaptopathy linked with Alzheimer's and Parkinson's disease.

Panda SP et al.

Neuroscience, 2026

Tau protein: Physiological functions and multifaceted roles in neurodegenerative and psychiatric disorders.

Tang F et al.

Genomic Psychiatry : Advancing Science From Genes to Society, 2025

Pathological and Molecular Insights into the Early Stage of Multiple System Atrophy.

Tanaka MT et al.

Cells, 2025

Alpha-Synuclein Neurobiology in Parkinson's Disease: A Comprehensive Review of Its Role, Mechanisms, and Therapeutic Perspectives.

Pitton Rissardo J et al.

Brain Sciences, 2025

The Christchurch point mutation in mouse APOE reduces Aβ-induced tau and α-synuclein pathologies.

Soto-Faguás CM et al.

Biorxiv : the Preprint Server for Biology, 2025

The Aggregation Continuum of α-Synuclein and Its Relevance to Brain Aging.

Rana A et al.

Acs Chemical Neuroscience, 2025

Cholesterol-mediated Lysosomal Dysfunction in APOE4 Astrocytes Promotes α-Synuclein Pathology in Human Brain Tissue.

Mesentier-Louro LA et al.

Biorxiv : the Preprint Server for Biology, 2025

Insights Into Retinal Pathologies in Neurological Disorders: A Focus on Parkinson's Disease, Multiple Sclerosis, Amyotrophic Lateral Sclerosis, and Alzheimer's Disease.

Akyuz E et al.

Journal of Neuroscience Research, 2025

Mechanism and Clinical Application Prospects of Mitochondrial DNA Single Nucleotide Polymorphism in Neurodegenerative Diseases.

Xu M et al.

Neurochemical Research, 2024

TYK2 regulates tau levels, phosphorylation and aggregation in a tauopathy mouse model.

Kim J et al.

Nature Neuroscience, 2024

Targeting Protein Misfolding and Aggregation as a Therapeutic Perspective in Neurodegenerative Disorders.

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

G272V and P301L Mutations Induce Isoform Specific Tau Mislocalization to Dendritic Spines and Synaptic Dysfunctions in Cellular Models of 3R and 4R Tau Frontotemporal Dementia.

Yu K et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice.

Benzow K et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Neuronal identity defines α-synuclein and tau toxicity.

Praschberger R et al.

Neuron, 2023

Interaction Between the Glymphatic System and α-Synuclein in Parkinson's Disease.

Zhang Y et al.

Molecular Neurobiology, 2023

Pharmacological PINK1 activation ameliorates Pathology in Parkinson's Disease models.

Chin RM et al.

Biorxiv : the Preprint Server for Biology, 2023

Unique seeding profiles and prion-like propagation of synucleinopathies are highly dependent on the host in human α-synuclein transgenic mice.

Lloyd GM et al.

Acta Neuropathologica, 2022

Wild-Type α-Synuclein and Variants Occur in Different Disordered Dimers and Pre-Fibrillar Conformations in Early Stage of Aggregation.

Guzzo A et al.

Frontiers in Molecular Biosciences, 2022

Role of lysosomes in physiological activities, diseases, and therapy.

Zhang Z et al.

Journal of Hematology & Oncology, 2021

In vivo aggregation of presynaptic alpha-synuclein is not influenced by its phosphorylation at serine-129.

Weston LJ et al.

Neurobiology of Disease, 2021

Single-Cell Transcriptomics of Parkinson's Disease Human In Vitro Models Reveals Dopamine Neuron-Specific Stress Responses.

Fernandes HJR et al.

Cell Reports, 2020

New insights on the structure of alpha-synuclein fibrils using cryo-electron microscopy.

Guerrero-Ferreira R et al.

Current Opinion in Neurobiology, 2020

Tau is required for progressive synaptic and memory deficits in a transgenic mouse model of α-synucleinopathy.

Singh B et al.

Acta Neuropathologica, 2019

31168644 (PubMed )
Supplement: 401_2019_2032_MOESM1_ESM.pdf

Tau interacts with SHP2 in neuronal systems and in Alzheimer's disease brains.

Kim Y et al.

Journal of Cell Science, 2019

Neuronal Soma-Derived Degradative Lysosomes Are Continuously Delivered to Distal Axons to Maintain Local Degradation Capacity.

Farfel-Becker T et al.

Cell Reports, 2019

Sequence- and seed-structure-dependent polymorphic fibrils of alpha-synuclein.

Tanaka G et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

O-GlcNAc Modification Protects against Protein Misfolding and Aggregation in Neurodegenerative Disease.

Ryan P et al.

Acs Chemical Neuroscience, 2019

Amyloid fibril structure of α-synuclein determined by cryo-electron microscopy.

Li Y et al.

Cell Research, 2018

Mitochondrial dysfunction and neurodegenerative proteinopathies: mechanisms and prospects for therapeutic intervention.

Briston T et al.

Biochemical Society Transactions, 2018

Annexins A2 and A6 interact with the extreme N terminus of tau and thereby contribute to tau's axonal localization.

Gauthier-Kemper A et al.

The Journal of Biological Chemistry, 2018

Autonomic dysfunction in genetic forms of synucleinopathies.

Chelban V et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Familial Parkinson's point mutation abolishes multiple system atrophy prion replication.

Woerman AL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Phosphorylation of tau at Y18, but not tau-fyn binding, is required for tau to modulate NMDA receptor-dependent excitotoxicity in primary neuronal culture.

Miyamoto T et al.

Molecular Neurodegeneration, 2017

Alpha-synuclein at the intracellular and the extracellular side: functional and dysfunctional implications.

Ottolini D et al.

Biological Chemistry, 2017

The unfolded protein response: mechanisms and therapy of neurodegeneration.

Smith HL et al.

Brain : a Journal of Neurology, 2016

Glia and alpha-synuclein in neurodegeneration: A complex interaction.

Brück D et al.

Neurobiology of Disease, 2016

Transient β-hairpin formation in α-synuclein monomer revealed by coarse-grained molecular dynamics simulation.

Yu H et al.

The Journal of Chemical Physics, 2015

NH2-truncated human tau induces deregulated mitophagy in neurons by aberrant recruitment of Parkin and UCHL-1: implications in Alzheimer's disease.

Corsetti V et al.

Human Molecular Genetics, 2015

Tau reduction prevents Aβ-induced axonal transport deficits by blocking activation of GSK3β.

Vossel KA et al.

The Journal of Cell Biology, 2015

Link between the SNCA gene and parkinsonism.

Xu W et al.

Neurobiology of Aging, 2015

Genomic editing tools to model human diseases with isogenic pluripotent stem cells.

Kim HS et al.

Stem Cells and Development, 2014

Genetic variants and animal models in SNCA and Parkinson disease.

Deng H et al.

Ageing Research Reviews, 2014

Site-specific fluorescence dynamics of α-synuclein fibrils using time-resolved fluorescence studies: effect of familial Parkinson's disease-associated mutations.

Sahay S et al.

Biochemistry, 2014

24450731 (PubMed )
Supplement: bi401543z_si_001.pdf

Age-dependent effects of A53T alpha-synuclein on behavior and dopaminergic function.

Oaks AW et al.

Plos One, 2013

Limelight on alpha-synuclein: pathological and mechanistic implications in neurodegeneration.

Wales P et al.

Journal of Parkinson's Disease, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."